Canonical Allele Identifier: CA2326567742

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869156A= , CM000681.2:g.18869156A=	GRCh38
NC_000019.9:g.18979965A= , CM000681.1:g.18979965A=	GRCh37
NC_000019.8:g.18840965A=	NCBI36
NG_012070.1:g.31989T=
NG_033056.1:g.31989T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*829T= (CERS1) MANE Select	ENSP00000485308.1:n.*829T=
ENST00000247005.8:c.560T= (GDF1) MANE Select	ENSP00000247005.5:p.Val187=
ENST00000247005.7:c.560T= (GDF1)	ENSP00000247005.5:p.Val187=
ENST00000623882.3:c.*829T= (CERS1)	ENSP00000485308.1:n.*829T=
ENST00000623927.1:c.560T= (CERS1)	ENSP00000485582.1:p.Val187=
NM_001492.5:c.560T= (GDF1)	NP_001483.3:p.Val187=
NM_021267.4:c.*829T= (CERS1)	NP_067090.1:n.*829T=
NM_001492.6:c.560T= (GDF1) MANE Select	NP_001483.3:p.Val187=
NM_021267.5:c.*829T= (CERS1) MANE Select	NP_067090.1:n.*829T=
NM_001387438.1:c.560T= (GDF1)	NP_001374367.1:p.Val187=
NM_001387440.1:c.*1421T= (CERS1)	NP_001374369.1:n.*1421T=